A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748504



Internal ID18722750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108872348..108872874hg38UCSC Ensembl
Outerchr12:108872300..108872893hg38UCSC Ensembl
Innerchr12:109266124..109266650hg19UCSC Ensembl
Outerchr12:109266076..109266669hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549757
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748504
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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